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About FSHD

What is FSHD?

Facioscapulohumeral muscular dystrophy [FSHD] is a hereditary muscle disease, affecting approximately 1:2,000 – 10,000 persons and is the third most common muscular dystrophy in humans. FSHD strikes men, women, and children of all races and ethnicities. The disorder is characterised by the progressive weakening and wasting of skeletal muscle.

What causes FSHD?

FSHD is a genetic disorder and can affect many family members across generations. In about 30 percent of cases, there is no family history of FSHD. Two genetic forms of FSHD are generally distinguished, FSHD Type 1 and FSHD Type 2. The two types share the same symptoms, but they differ in their genetic cause. More than 95% of patients have FSHD type 1.

Symptoms

The name FSHD reflects the muscles most often affected – the facial muscles, shoulder girdles and upper arms, but weakness of the trunk, hips and lower limbs also can occur especially in the later stages of the disorder. Approximately, approximately 20% of the patients become wheelchair dependent. There can be considerable variation in the onset and severity of symptoms and there may be significant asymmetry in that muscles on one side of the body may be weaker than the other. Symptoms commonly become evident in adolescence, but milder cases may not be noticeable until middle or even late adulthood whilst severe cases can present in infancy and childhood.

Diagnosis and genetic testing

FSHD can be difficult to diagnose for these reasons:

  • Most healthcare providers have little experience diagnosing and treating people with FSHD.
  • It can be confused with other neuromuscular disorders – this may lead to the wrong diagnosis and, sometimes to unnecessary treatment.
  • Genetic testing is not yet widely available across Europe. Accessibility of genetic testing for FSHD type 1 is improving over time, however for FSHD type 2 remains limited.

One of the FSHD European Trial Network (ETN) working groups is focused on genetic testing and published a list of European reference centres for FSHD genetic testing, centres of expertise in FSHD molecular diagnosis. It is hoped that this will improve the accessibility of genetic testing throughout Europe and allow other centres to contact them.

Genetic testing centres

Standards of Care

International care guidelines are available and include evidence-based information on diagnosing and managing FSHD.
Guidelines

Learn more about FSHD

The FSHD Society has a patient library & resources where you can find more information:

FSHD Patient Library & Resources | FSHD Society

Other resources can be found on websites of national patient organisations.

Frequently Asked Questions

Treatment

A cure for FSHD is not available yet. Current treatment is predominantly symptomatic, including physical therapy, occupational therapy, and non-invasive ventilation. More information on treatment and care can be found on the websites of the national patient organizations. Furthermore, contact your healthcare provider if you have questions and keep an open line of communication. Share not only details of your FSHD symptoms but also about your job, lifestyle, home environment and exercises. Managing your FSHD goes beyond medical care.

International care guidelines are available and include evidence-based information on diagnosing and managing FSHD.

Currently over twenty pharmaceutical companies are working on therapy development for FSHD (Drug Development Pipeline | FSHD Society). Before a potential treatment can be made available for patients, it must go through a clinical trial. To learn more about therapy development, clinical trials and how to be involved, click below.

FSHD Research